Introduction: p16(INK4A) is a tumor suppressor encoding the Cdk inhibitor protein, which acts to repress Cdk4/6 and pRb phosphorylation. p16(INK4A) gene can be inactivated by a variety of events, including promoter hypermethylation.
Materials and methods: To investigate the methylation status of the p16(INK4A) gene in Iranian patients with breast carcinoma, promoter methylation was studied by methylation-specific PCR (MSP) and restriction enzyme-related PCR (REP). In addition, p16(INK4A) promoter was analyzed by PCR-SSCP in order to detection of mutation and single nucleotide polymorphisms.
Results: Analysis of 70 patients by MPS and REP showed hypermethylation of p16(INK4A) promoter in 35.7% (25/70) and 40% (28/70) of samples, respectively. Comparison of the molecular data and pathological information of the samples suggested that p16(INK4A) gene might be inactivated at the early stages in breast cancer.
Conclusion: Therefore, it could be suggested that hypermethylation of p16(INK4A) promoter is one of the epigenetic factors affecting the progress of sporadic breast carcinogenesis in Iranian patients.